Introduction
Rubinstein-Taybi syndrome is a rare genetic condition characterized by small stature, mild-to-severe intellectual incapacity, unusual facial characteristics, difficulties with growth and learning, and broad thumbs, and first toes. This may also include eye abnormalities, heart disorders, kidney disorders, dental issues, and obesity are possible additional symptoms of the condition. These indications and symptoms differ from person to person. Individuals with this syndrome more likely to develop certain forms of brain and skin tumors.
What Is Rubinstein-Taybi Syndrome?
The rare genetic condition known as Rubinstein-Taybi syndrome (RSTS) has an impact on numerous organ systems. Rubinstein-Taybi syndrome is marked by developmental delays, unusual facial features, intellectual handicap (with an average IQ of 36 to 51), excessively broad and frequently angulated thumbs and great toes (halluces), and eating issues (dysphagia).
What Causes Rubinstein-Taybi Syndrome?
About 50 percent of cases of Rubinstein-Taybi syndrome are caused by mutations in the CREBBP gene. The CREBBP gene encodes a protein that aids in regulating the activity of numerous other genes. This protein, also known as CREB binding protein, is necessary for healthy prenatal development because it regulates cell growth and division.
People with Rubinstein-Taybi syndrome produce only half the amount of CREB binding protein normally because one copy of the CREBBP gene is deleted or mutated. Normal development both before and after birth is disrupted by a decrease in the amount of this protein. Intellectual disability is thought to be caused by abnormal brain development in people with Rubinstein-Taybi syndrome.
A small fraction of instances of Rubinstein-Taybi syndrome are brought on by mutations in the EP300 gene. Similar to the CREBBP gene, this gene gives instructions for the production of a protein that aids in regulating the activity of other genes. It seems to be crucial for development both before and after birth. When the EP300 gene is mutated, one functional copy of the gene is lost in every cell, interfering with normal growth and resulting in the classic symptoms of Rubinstein-Taybi syndrome.
What Is the Inheritance Pattern in Rubinstein-Taybi Syndrome?
It is believed that this disorder is inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is necessary in each cell to result in the disorder. The majority of instances are caused by novel gene mutations and affect persons with no family history of the condition.
What Are the Sign and Symptoms Associated With Rubinstein-Taybi Syndrome?
Following are the characteristics features of Rubinstein-Taybi syndrome (RSTS):
1. Ocular Symptoms:
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Eyes that are angled downward.
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A pair of widely separated eyes (also known as misaligned eyes).
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Sagging eyelid (or ptosis).
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Pronounced arches in the brows.
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Frequent infections of the eyes (often due to tear duct blockage).
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Larger than-average eyes, hazy corneas, and congenital glaucoma are all sporadic occurrences.
2. Non Ocular Symptoms:
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Greater width of the thumbs and toes.
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Modest-to severe mental development delays.
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A beaked-looking nose.
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A low stature is caused by a delay in bone growth.
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Wide nasal bridge.
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Deformity of the ears.
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Palate with a high arch.
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A nose with an additional fold of skin on either side of the bridge.
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Microcephaly (a small head).
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A smaller-than-average lower jaw.
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A red birthmark that is flat on the forehead.
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Joints with excessive extensibility.
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A diminutive and twisted pelvis.
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Uncontrollable hair growth.
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Undescending testicles.
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Feeding difficulties.
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Respiratory system infections.
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Irregular heartbeat.
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Anomalies in the spine.
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Irregularities in the kidney.
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Difficulties with orthopedics.
3. Rubinstein-Taybi Syndrome Cognitive Delays:
Comparing Rubinstein-Taybi syndrome patients to non-Rubinstein-Taybi syndrome patients, different cognitive deficits are present in Rubinstein-Taybi syndrome youngsters. When a child enters school-going age, these delays are frequently assessed. After that, their intellectual disability is acknowledged. Rubinstein-Taybi syndrome patients may have certain limitations in their capacity for reasoning, picking up new information, and problem-solving.
4. Delays in Physical and Motor Function in Rubinstein-Taybi Syndrome Patient:
Developmental deficits in physical and motor abilities will affect many Rubinstein-Taybi syndrome patients. Insufficient muscular tone frequently causes this. Problems with balance and motor control frequently occur from these delays in combination with cognitive impairments. Delay in the development of skills like rolling over, sitting up, feeding, walking, and general self-care may be the outcome of this.
5. Transmission Delays in Rubinstein-Taybi Syndrome:
Children who have Rubinstein-Taybi syndrome frequently face serious delays in their speech development. More than 90 percent of kids with Rubinstein-Taybi syndrome actually fit this description. Eating problems could be a warning indicator of speech delay. This is because speaking and eating both require proper mouth and tongue coordination.
How to Diagnose Rubinstein-Taybi Syndrome?
1. Rubinstein-Taybi syndrome is often diagnosed based on clinical or physical characteristics. There is frequently a downward slope to the eyes. Additional characteristics that aid in the diagnosis of Rubinstein-Taybi syndrome include large thumbs and toes, a high palate, teeth that resemble talon’s cusps, and a low-hanging nasal septum.
2. X-ray scans may be carried out to look for anomalies in bones, particularly in the hands and feet, to help confirm a diagnosis of Rubinstein-Taybi syndrome. The presence of electrical activity in the brain may be observed using further scans.
3. Genetic testing might also be able to validate the existence of Rubinstein-Taybi syndrome chromosomal mutations. However, not all patients will have this mutation. While many children are diagnosed right after birth, there are some who are not diagnosed at birth depending on the severity of the condition.
What Is the Line of Treatment for Rubinstein-Taybi Syndrome?
1. Rubinstein-Taybi syndrome treatment is determined by the individual's symptoms. Treating this issue may necessitate the collaboration of a team of specialists, including pediatricians, cardiologists, orthopedists, audiologists, urologists, nephrologists, and others.
2. To keep track of the child's growth rate, a Rubinstein-Taybi syndrome-specific growth chart should be used. Moreover, annual eye exams and hearing evaluations, as well as long-term monitoring of cardiac, renal, and dental anomalies, should be performed.
3. If skeletal anomalies are evident, orthopedic surgery, supportive methods, and physical therapy may be employed to treat them.
4. For certain affected individuals, early intervention is essential. This can aid in preventing and monitoring any breathing or eating issues brought on by Rubinstein-Taybi syndrome. To support the affected person's proper development, further treatment plans may include special education programs, behavioral treatments, speech therapies, and vocational training.
5. It is advised that afflicted people and their families obtain genetic counseling.
Conclusion
Rubinstein-Taybi Syndrome, also known as RTS, is a multi-system genetic disorder marked by deformities of the face, wide thumbs, and wide toes. Rubinstein-Taybi Syndrome patients also often have developmental problems. The typical management plan includes annual eye and hearing exams, growth and eating monitoring, and evaluations for cardiac, dental, and renal problems. Furthermore, recommended are behavioral counseling and special education.
